Canonical Allele Identifier: CA383025881

Gene: SC5D

Linked Data

• dbSNP Id: rs1947939365
• gnomAD v4: 11-121303413-T-G
• MyVariant Identifiers: chr11:g.121174122T>G (hg19) ; chr11:g.121303413T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303413T>G , CM000673.2:g.121303413T>G	GRCh38
NC_000011.9:g.121174122T>G , CM000673.1:g.121174122T>G	GRCh37
NC_000011.8:g.120679332T>G	NCBI36
NG_009446.1:g.15735T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264027.9:c.38T>G MANE Select	ENSP00000264027.4:p.Phe13Cys
ENST00000264027.8:c.38T>G	ENSP00000264027.4:p.Phe13Cys
ENST00000392789.2:c.38T>G	ENSP00000376539.2:p.Phe13Cys
ENST00000524683.5:n.94T>G
ENST00000527762.5:c.38T>G	ENSP00000436290.1:p.Phe13Cys
ENST00000531140.1:n.106T>G
ENST00000534230.5:c.38T>G	ENSP00000432550.1:p.Phe13Cys
ENST00000534455.5:n.184T>G
NM_001024956.2:c.38T>G	NP_001020127.1:p.Phe13Cys
NM_006918.4:c.38T>G	NP_008849.2:p.Phe13Cys
NM_006918.5:c.38T>G MANE Select	NP_008849.2:p.Phe13Cys
NM_001024956.3:c.38T>G	NP_001020127.1:p.Phe13Cys